Preferred Label : DPYD NM_000110.4:c.1236G A;
NCIt synonyms : Dihydropyrimidine Dehydrogenase c.1236G A; DPYD Polymorphism rs56038477; DPYD c.1236G A; DPD c.1236G A; DHPDHASE c.1236G A; NM_000110.4:c.1236G A; DHP c.1236G A;
NCIt definition : A nucleotide substitution at position 1236 of the coding sequence of the DPYD gene
where guanine has been mutated to adenine.;
NCIt note : Silent mutation. Encodes DPYD p.Glu412Glu;
NCI Metathesaurus CUI : CL1905458;
SNP ID : rs56038477;
Origin ID : C191942;
UMLS CUI : C5784783;
Semantic type(s)
concept_is_in_subset
molecular_abnormality_involves_gene